Variant report

Variant	rs4946727
Chromosome Location	chr6:106573372-106573373
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106572499..106574358-chr6:106575871..106578205,2	MCF-7	breast:
2	chr6:106571937..106574658-chr6:106760869..106763793,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17586975	0.80[ASN][1000 genomes]
rs17587088	1.00[AFR][1000 genomes]
rs4946724	1.00[ASW][hapmap]
rs4946725	1.00[ASW][hapmap]
rs4946726	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6910095	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[AFR][1000 genomes]
rs72941700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72943407	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72943409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72943416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72943417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72943420	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72943421	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72943425	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7772706	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1832544	chr6:106539914-106642993	Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106553600-106584000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:106559200-106574200	Weak transcription	Small Intestine	intestine
3	chr6:106567200-106573800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:106567400-106573400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:106568000-106576800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:106568400-106573400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:106568600-106576800	Weak transcription	NHDF-Ad	bronchial
8	chr6:106568600-106577000	Weak transcription	HSMMtube	muscle
9	chr6:106568800-106578000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:106570400-106574800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:106571800-106573800	Enhancers	GM12878-XiMat	blood
12	chr6:106572000-106574600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:106572200-106574600	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:106572400-106574000	Enhancers	K562	blood
15	chr6:106572600-106573800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr6:106572800-106573800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr6:106573000-106573800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:106573000-106573800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:106573000-106574000	Enhancers	Fetal Intestine Large	intestine
20	chr6:106573000-106574400	Enhancers	Fetal Intestine Small	intestine
21	chr6:106573200-106573600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr6:106573200-106573600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:106573200-106573800	Enhancers	Primary B cells from cord blood	blood
24	chr6:106573200-106573800	Weak transcription	Lung	lung

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